Canonical Allele Identifier: CA1103294
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs779252763
ExAC: 1:152276809 T / G
gnomAD v2: 1-152276809-T-G
gnomAD v4: 1-152304333-T-G
MyVariant Identifiers: chr1:g.152276809T>G (hg19) chr1:g.152304333T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304333T>G , CM000663.2:g.152304333T>G GRCh38
NC_000001.10:g.152276809T>G , CM000663.1:g.152276809T>G GRCh37
NC_000001.9:g.150543433T>G NCBI36
NG_016190.1:g.25871A>C , LRG_1028:g.25871A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.10553A>C MANE Select ENSP00000357789.1:p.His3518Pro
ENST00000368799.1:c.10553A>C ENSP00000357789.1:p.His3518Pro
NM_002016.1:c.10553A>C , LRG_1028t1:c.10553A>C NP_002007.1:p.His3518Pro
XM_011509329.1:c.9109-500A>C XP_011507631.1:n.9109-500A>C
NM_002016.2:c.10553A>C MANE Select NP_002007.1:p.His3518Pro
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